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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Author

Listed:
  • Marisa W. Friederich

    (University of Colorado)

  • Sharita Timal

    (Radboud University Medical Center
    Radboud University Medical Center)

  • Christopher A. Powell

    (University of Cambridge)

  • Cristina Dallabona

    (University of Parma)

  • Alina Kurolap

    (The Genetics Institute, Rambam Health Care Campus
    Technion – Israel Institute of Technology)

  • Sara Palacios-Zambrano

    (Universidad Autónoma de Madrid
    Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12))

  • Drago Bratkovic

    (SA Pathology, Women and Children’s Hospital Adelaide)

  • Terry G. J. Derks

    (University Medical Center Groningen, University of Groningen)

  • David Bick

    (HudsonAlpha Institute for Biotechnology)

  • Katelijne Bouman

    (University of Groningen)

  • Kathryn C. Chatfield

    (University of Colorado)

  • Nadine Damouny-Naoum

    (The Genetics Institute, Rambam Health Care Campus
    University of Haifa)

  • Megan K. Dishop

    (University of Colorado)

  • Tzipora C. Falik-Zaccai

    (Institute of Human Genetics, Galilee Medical Center
    Bar Ilan University)

  • Fuad Fares

    (University of Haifa)

  • Ayalla Fedida

    (Institute of Human Genetics, Galilee Medical Center
    Bar Ilan University)

  • Ileana Ferrero

    (University of Parma)

  • Renata C. Gallagher

    (University of Colorado)

  • Rafael Garesse

    (Universidad Autónoma de Madrid
    Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12))

  • Micol Gilberti

    (University of Parma)

  • Cristina González

    (Universidad Autónoma de Madrid
    Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12))

  • Katherine Gowan

    (University of Colorado)

  • Clair Habib

    (Bnai Zion Medical Center)

  • Rebecca K. Halligan

    (SA Pathology, Women and Children’s Hospital Adelaide)

  • Limor Kalfon

    (Institute of Human Genetics, Galilee Medical Center)

  • Kaz Knight

    (University of Colorado)

  • Dirk Lefeber

    (Radboud University Medical Center)

  • Laura Mamblona

    (Universidad Autónoma de Madrid
    Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12))

  • Hanna Mandel

    (Technion – Israel Institute of Technology
    Institute of Human Genetics, Galilee Medical Center
    Metabolic Unit, Rambam Health Care Campus)

  • Adi Mory

    (The Genetics Institute, Rambam Health Care Campus)

  • John Ottoson

    (University of Colorado)

  • Tamar Paperna

    (The Genetics Institute, Rambam Health Care Campus)

  • Ger J. M. Pruijn

    (Radboud University)

  • Pedro F. Rebelo-Guiomar

    (University of Cambridge
    University of Porto)

  • Ann Saada

    (Hadassah-Hebrew University Medical Center)

  • Bruno Sainz

    (Universidad Autónoma de Madrid
    Enfermedades Crónicas y Cáncer Area, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS))

  • Hayley Salvemini

    (SA Pathology, Women and Children’s Hospital Adelaide)

  • Mirthe H. Schoots

    (University Medical Center Groningen, University of Groningen)

  • Jan A. Smeitink

    (Radboud University Medical Center)

  • Maciej J. Szukszto

    (University of Cambridge)

  • Hendrik J. ter Horst

    (University Medical Center Groningen, University of Groningen)

  • Frans van den Brandt

    (Radboud University Medical Center)

  • Francjan J. van Spronsen

    (University Medical Center Groningen, University of Groningen)

  • Joris A. Veltman

    (Radboud University Medical Center
    Institute of Genetic Medicine, Newcastle University)

  • Eric Wartchow

    (University of Colorado)

  • Liesbeth T. Wintjes

    (Radboud University Medical Center)

  • Yaniv Zohar

    (Institute of Pathology, Rambam Health Care Campus)

  • Miguel A. Fernández-Moreno

    (Universidad Autónoma de Madrid
    Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12))

  • Hagit N. Baris

    (The Genetics Institute, Rambam Health Care Campus
    Technion – Israel Institute of Technology)

  • Claudia Donnini

    (University of Parma)

  • Michal Minczuk

    (University of Cambridge)

  • Richard J. Rodenburg

    (Radboud University Medical Center)

  • Johan L. K. Van Hove

    (University of Colorado)

Abstract

Mitochondrial protein synthesis requires charging a mitochondrial tRNA with its amino acid. Here, the authors describe pathogenic variants in the GatCAB protein complex genes required for the generation of glutaminyl-mt-tRNAGln, that impairs mitochondrial translation and presents with cardiomyopathy.

Suggested Citation

  • Marisa W. Friederich & Sharita Timal & Christopher A. Powell & Cristina Dallabona & Alina Kurolap & Sara Palacios-Zambrano & Drago Bratkovic & Terry G. J. Derks & David Bick & Katelijne Bouman & Kathr, 2018. "Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder," Nature Communications, Nature, vol. 9(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-06250-w
    DOI: 10.1038/s41467-018-06250-w
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    Cited by:

    1. Marlies Cortés & Agnese Brischetto & M. C. Martinez-Campanario & Chiara Ninfali & Verónica Domínguez & Sara Fernández & Raquel Celis & Anna Esteve-Codina & Juan J. Lozano & Julia Sidorova & Gloria Gar, 2023. "Inflammatory macrophages reprogram to immunosuppression by reducing mitochondrial translation," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    2. Javier Botey-Bataller & Hedwig D. Vrijmoeth & Jeanine Ursinus & Bart-Jan Kullberg & Cees C. Wijngaard & Hadewych Hofstede & Ahmed Alaswad & Manoj K. Gupta & Lennart M. Roesner & Jochen Huehn & Thomas , 2024. "A comprehensive genetic map of cytokine responses in Lyme borreliosis," Nature Communications, Nature, vol. 15(1), pages 1-15, December.

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